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Osteodysplastic primordial dwarfism type II with normal intellect but delayed central nervous system myelination
1Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. halder@sgpgi.ren.nic.in
Insights
This case study presents a boy with osteodysplastic primordial dwarfism type II (OPD II), exhibiting severe growth retardation and skeletal abnormalities. Notably, he has normal intellect despite delayed central nervous system myelination, a unique presentation for this rare dwarfism type.
Area of Science:
- Medical Genetics
- Pediatrics
- Skeletal Dysplasias
Background:
- Osteodysplastic primordial dwarfism type II (OPD II) is a rare skeletal dysplasia characterized by severe growth retardation.
- Patients typically present with characteristic skeletal abnormalities and facial features.
Observation:
- A 7-year-old boy from the Indian subcontinent presented with severe prenatal and postnatal growth retardation.
- He exhibited skeletal changes suggestive of OPD II and an unusual facial appearance.
- Intellect was normal, but central nervous system myelination was delayed.
Findings:
- This represents the 18th reported case of OPD II globally and the first from the Indian subcontinent.
- The patient displays a unique combination of normal intellect and delayed CNS myelination in the context of OPD II.
Implications:
- This case expands the clinical spectrum of osteodysplastic primordial dwarfism type II.
- Highlights the importance of considering neurological assessments in patients with OPD II, even with normal intellect.
- Contributes to understanding the phenotypic variability of rare genetic skeletal disorders.
Abstract:
We describe a 7-year-boy with severe prenatal and postnatal growth retardation, skeletal changes, normal intellect, and unusual facial appearance. The skeletal changes are suggestive of osteodysplastic primordial dwarfism type II (OPD II). He is the first patient of this kind from the Indian subcontinent and the 18th to be reported, based on a literature search (MEDLINE; 1982 to April 1997). He also represents the first case of OPD-II with normal intellect but delayed central nervous system myelination.